Canonical Allele Identifier: CA413309678
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1948232
ClinVar RCV Id: RCV002667580
dbSNP Id: rs1930274035
MyVariant Identifiers: chrX:g.63412408C>A (hg19) chrX:g.64192528C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192528C>A , CM000685.2:g.64192528C>A GRCh38
NC_000023.10:g.63412408C>A , CM000685.1:g.63412408C>A GRCh37
NC_000023.9:g.63329133C>A NCBI36
NG_021345.1:g.18217G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.759G>T MANE Select ENSP00000364003.4:p.Met253Ile
ENST00000330258.3:c.759G>T ENSP00000329117.3:p.Met253Ile
ENST00000374869.7:c.759G>T ENSP00000364003.3:p.Met253Ile
NM_152424.3:c.759G>T NP_689637.3:p.Met253Ile
XM_011530858.1:c.759G>T XP_011529160.1:p.Met253Ile
NM_152424.4:c.759G>T MANE Select NP_689637.3:p.Met253Ile
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